Traits

Traits linked to IDH1

isocitrate dehydrogenase (NADP(+)) 1

The Human Phenotype Ontology links 109 traits to IDH1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Abnormality of the wide portion of a long bone	Very often (80–99%)
Broad wide portion of long bone	Very often (80–99%)
Irregular wide portion of a long bone	Very often (80–99%)
Metaphyseal enchondromatosis	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Metaphyseal chondromatosis of femur	Often (30–79%)
Metaphyseal chondromatosis of radius	Often (30–79%)
Metaphyseal chondromatosis of tibia	Often (30–79%)
Metaphyseal chondromatosis of ulna	Often (30–79%)
Metaphyseal cupping	Often (30–79%)
Short finger bones	Often (30–79%)
Enlargement of the ankles	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Large knee	Sometimes (5–29%)
Left and right leg differ in length or width	Sometimes (5–29%)
Madelung deformity	Sometimes (5–29%)
Metaphyseal dysplasia	Sometimes (5–29%)
Outward bow-leggedness	Sometimes (5–29%)
Outward turned elbows	Sometimes (5–29%)
Unequal size of arms	Sometimes (5–29%)
Wide wrist bones	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal bone maturation	Very often (80–99%)
Abnormal shape of cartilage	Very often (80–99%)
Breakdown of bone	Very often (80–99%)
Multiple enchondromatosis	Very often (80–99%)
Abnormal shape of joints	Often (30–79%)
Bone pain	Often (30–79%)
Flattened vertebrae	Often (30–79%)
Formation of new noncancerous bone on top of existing bone	Often (30–79%)
Irregular vertebral endplates	Often (30–79%)
Joint stiffness	Often (30–79%)
Scoliosis	Often (30–79%)
Chondrosarcoma	Sometimes (5–29%)
Generalized decreased muscle tone	Sometimes (5–29%)
Irregular iliac crest	Sometimes (5–29%)
Lumbar scoliosis	Sometimes (5–29%)
Multiple joint contractures	Sometimes (5–29%)
Recurrent fractures	Sometimes (5–29%)
Shield chest	Sometimes (5–29%)
Spontaneous fracture	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal globus pallidus morphology	Sometimes (5–29%)
Abnormal pons morphology	Sometimes (5–29%)
Abnormal septum pellucidum morphology	Sometimes (5–29%)
Astrocytoma	Sometimes (5–29%)
Cerebellar dysplasia	Sometimes (5–29%)
Cerebral palsy	Sometimes (5–29%)
Cerebral white matter atrophy	Sometimes (5–29%)
Cranial nerve paralysis	Sometimes (5–29%)
Delayed myelination	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Intracranial cystic lesion	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Waddling gait	Sometimes (5–29%)
Widened cerebral subarachnoid space	Sometimes (5–29%)
Ependymoma	Not recorded
Glioblastoma multiforme	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Corners of eye widely separated	Sometimes (5–29%)
Decreased volume of lip	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Facial asymmetry	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Short neck	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hemangiomatosis	Very often (80–99%)
Strawberry mark	Very often (80–99%)
Visceral angiomatosis	Very often (80–99%)
Cavernous hemangioma of the face	Sometimes (5–29%)
Collection of dilated blood vessels that forms mass	Sometimes (5–29%)
Lymphangioma	Sometimes (5–29%)
Secundum atrial septal defect	Sometimes (5–29%)
Subarterial ventricular septal defect	Sometimes (5–29%)
Twisted blood vessels	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Enlarged thyroid gland in neck	Sometimes (5–29%)
Neoplasm of the adrenal cortex	Sometimes (5–29%)
Neoplasm of the parathyroid gland	Sometimes (5–29%)
Noncancerous tumor in pituitary gland	Sometimes (5–29%)
Parathyroid adenoma	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Firm lump under the skin	Often (30–79%)
Dry skin	Sometimes (5–29%)
Hyperpigmented papule	Sometimes (5–29%)
Open skin sore	Sometimes (5–29%)
Skin plaque	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Sometimes (5–29%)
Nasogastric tube feeding in infancy	Sometimes (5–29%)
Poor suck	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Growth delay	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)
Short stature	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Sometimes (5–29%)
Cancer of connective tissue	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Blood clot in vein	Very often (80–99%)
Acute myelomonocytic leukemia	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Sometimes (5–29%)
Wide-spaced nipples	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye at birth	Sometimes (5–29%)
Horizontal nystagmus	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Sometimes (5–29%)
Ovarian cancer	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Infection in blood stream	Sometimes (5–29%)
Recurrent pneumonia	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Sometimes (5–29%)
Softening of voice box tissue	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Large ears	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
D-2-hydroxyglutaric aciduria	Always

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 IDH1 and how often each is seen. Find out more at hpo.jax.org.

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