Traits

Traits linked to MAP3K7

mitogen-activated protein kinase kinase kinase 7

The Human Phenotype Ontology links 151 traits to MAP3K7, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Dislocated radial head	Always
Short fingers or toes	Always
Broad thumb	Very often (80–99%)
Flared wide portion of long bone	Very often (80–99%)
Fused wrist bones	Very often (80–99%)
Fusion of wrist bones	Very often (80–99%)
Joint contracture of the hand	Very often (80–99%)
Long fingers	Very often (80–99%)
Short finger bones	Very often (80–99%)
Short palm	Very often (80–99%)
Broad wide portion of long bone	Often (30–79%)
Elbow flexion contracture	Often (30–79%)
Fused ankle bones	Often (30–79%)
Interphalangeal joint contracture of finger	Often (30–79%)
Limitation of knee mobility	Often (30–79%)
Limitation of movement at ankles	Often (30–79%)
Limited elbow movement	Often (30–79%)
Limited wrist movement	Often (30–79%)
Metacarpophalangeal joint contracture	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)
Pes valgus	Often (30–79%)
Short long bone of foot	Often (30–79%)
Short outermost bone of the thumb	Often (30–79%)
Short outermost finger bone	Often (30–79%)
Short shaft of long bone	Often (30–79%)
Shortened long bone of hand	Often (30–79%)
Ulnar deviation of the hand	Often (30–79%)
Wrist flexion contracture	Often (30–79%)
Degeneration of small hand muscles	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Progressive bowing of long bones	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)
Underdeveloped shoulder muscle	Sometimes (5–29%)
Club feet	Not recorded
Curvature of finger	Not recorded
Dislocated hip since birth	Not recorded
Hip contracture	Not recorded
Short foot	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Bulbous nose	Always
Decreased size of nasal tip	Always
Eye folds	Always
Full cheeks	Always
Fullness around the eyes	Always
Prominent brow	Always
Wide mouth	Always
Wide nasal bridge	Always
Abnormal facial shape	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
High, narrow palate	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long philtrum	Very often (80–99%)
Upward slanting of the opening between the eyelids	Very often (80–99%)
Abnormal dental position	Often (30–79%)
Coarse facial features	Often (30–79%)
Corners of eye widely separated	Often (30–79%)
Dense bone of skull base	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Short chin	Often (30–79%)
Unerupted adult teeth	Often (30–79%)
Bifid uvula	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Deformity of the skull	Sometimes (5–29%)
Failure of development of more than six teeth	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Low frontal hairline	Sometimes (5–29%)
Pierre-Robin sequence	Sometimes (5–29%)
Webbed neck	Sometimes (5–29%)
Broad nasal tip	Not recorded
Deep philtrum	Not recorded
Depressed nasal bridge	Not recorded
Pointed chin	Not recorded
Short philtrum	Not recorded
Thick eyebrow	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Elbow contracture	Always
Fused neck	Always
Herniated disk	Always
Low muscle tone	Always
Abnormal skeletal development	Very often (80–99%)
Abnormal vertebral body morphology	Very often (80–99%)
Scoliosis	Very often (80–99%)
Cone-shaped end part of bone	Often (30–79%)
Delayed bone maturation	Often (30–79%)
Congenital diaphragmatic hernia	Sometimes (5–29%)
Decreased muscle mass	Sometimes (5–29%)
High shoulder blade	Sometimes (5–29%)
Poorly developed skeletal musculature	Sometimes (5–29%)
Funnel chest	Rarely (1–4%)
Permanent flexion of the finger or toe	Not recorded
Pseudoepiphyses	Not recorded
Rib fusion	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Dysplastic tricuspid valve	Always
Muscular ventricular septal defect	Always
Patent foramen ovale	Always
Underdeveloped aortic arch	Always
Mitral regurgitation	Very often (80–99%)
Mitral valve prolapse	Very often (80–99%)
Abnormality of the heart	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Not recorded
Narrowing of pulmonic valve	Not recorded
Patent ductus arteriosus	Not recorded

Abnormality of the ear

Trait	How often it is seen
Congenital sensorineural hearing impairment	Always
Low-set ears	Always
Conductive deafness	Very often (80–99%)
Ears rotated toward back of head	Very often (80–99%)
Hearing impairment	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)
Recurrent middle ear infection	Often (30–79%)
Abnormally shaped ears	Sometimes (5–29%)
Enlarged vestibular aqueduct	Sometimes (5–29%)
Fusion of middle ear ossicles	Sometimes (5–29%)
Mixed hearing impairment	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Decreased testicular size	Always
Hydronephrosis	Often (30–79%)
Narrowing of the urethra	Often (30–79%)
Ureteral obstruction	Often (30–79%)
Horseshoe kidney	Sometimes (5–29%)
Lack of bladder control due to nervous system injury	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	Always
Drooping upper eyelid	Always
Wide-set eyes	Always
Cross-eyed	Often (30–79%)
Abnormal cornea morphology	Sometimes (5–29%)
Astigmatism	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Delayed gastric emptying	Always
Feeding difficulties	Always
Acid reflux	Very often (80–99%)
Feeding difficulties in infancy	Sometimes (5–29%)
Pyloric stenosis	Sometimes (5–29%)
Ulcerative colitis	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Chiari malformation	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)
Spina bifida occulta	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Short stature	Always
Severe short stature	Very often (80–99%)
Growth delay	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Soft skin	Always
Keloids	Often (30–79%)
Excessive hairiness	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Noisy breathing	Often (30–79%)
Subglottic stenosis	Often (30–79%)
Narrowing of windpipe	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Always

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MAP3K7 and how often each is seen. Find out more at hpo.jax.org.

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