Traits

Traits linked to ANKH

ANKH inorganic pyrophosphate transport regulator

The Human Phenotype Ontology links 76 traits to ANKH, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Bad bite	Always
Big calvaria	Always
Bony paranasal bossing	Always
Broad forehead	Always
Corners of eye widely separated	Always
Delayed eruption of baby teeth	Always
Delayed eruption of permanent teeth	Always
Delayed pneumatization of the mastoid process	Always
Dense bone of skull base	Always
Enlargement of skull bones	Always
Epiblepharon	Always
Frontal bossing	Always
Gum enlargement	Always
Increased size of gum ridge	Always
Increased thickness of skull cap	Always
Long face	Always
Prominence of cheekbone	Always
Prominent nasal bridge	Always
Wide nasal bridge	Always
Bell's palsy	Very often (80–99%)
Depressed nasal bridge	Very often (80–99%)
Enlargement of craniofacial bones	Very often (80–99%)
Big lower jaw	Often (30–79%)
Dental crowding	Often (30–79%)
Narrowing of the rear opening of the nasal cavity	Often (30–79%)
Abnormal dental position	Not recorded
Blockage of nose	Not recorded
Calvarial osteosclerosis	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Degenerative joint disease	Always
Disease of the joints	Always
Polyarticular chondrocalcinosis	Always
Thin bony cortex	Always
Abnormal intervertebral disk morphology	Very often (80–99%)
Arthritis	Very often (80–99%)
Calcification of cartilage	Very often (80–99%)
Harder, denser, fracture-prone bones	Very often (80–99%)
Abnormal skeletal development	Often (30–79%)
Ankylosis	Sometimes (5–29%)
Calcium deposits in joints	Sometimes (5–29%)
Joint dislocation	Sometimes (5–29%)
Joint stiffness	Sometimes (5–29%)
Limitation of joint mobility	Sometimes (5–29%)
Low solidness and mass of the bones	Sometimes (5–29%)
Synovitis	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Low-set ears	Always
Mixed hearing impairment	Always
Narrow internal auditory canal	Always
Ringing in ears	Always
Hearing impairment	Very often (80–99%)
Conductive deafness	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)
Incus ankylosis	Not recorded

Abnormality of the eye

Trait	How often it is seen
Visual fixation instability	Always
Wide-set eyes	Always
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Optic atrophy	Often (30–79%)
Outward facing eye ball	Often (30–79%)
Visual impairment	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Flared wide portion of long bone	Always
Abnormality of the wide portion of a long bone	Very often (80–99%)
Broad wide portion of long bone	Not recorded
Club-shaped outermost end of thighbone	Not recorded
Erlenmeyer flask shaped thighbone	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated alkaline phosphatase	Always
Joint swelling	Very often (80–99%)
High blood calcium levels	Often (30–79%)
Low blood phosphate level	Often (30–79%)
Fever	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal cranial nerve morphology	Sometimes (5–29%)
Epilepsy	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always

Abnormality of the endocrine system

Trait	How often it is seen
Increased circulating osteocalcin level	Always

Abnormality of the immune system

Trait	How often it is seen
Increased inflammatory response	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Joint pain	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Decreased body mass index	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 ANKH and how often each is seen. Find out more at hpo.jax.org.

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