Tunnused

Geeniga BMPR1B seotud tunnused

bone morphogenetic protein receptor type 1B

Inimese fenotüübi ontoloogia seostab geeniga BMPR1B 86 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Absent calf bone	Alati
Absent innermost bone of index finger	Alati
Absent/small middle index finger bone	Alati
Broad foot	Alati
Club foot on both sides	Alati
Curvature of little finger	Alati
Fused ankle bones	Alati
Fused wrist bones	Alati
Limb undergrowth	Alati
Radial deviation of finger	Alati
Short finger bones	Alati
Short fingers or toes	Alati
Short middle bone of the little finger	Alati
Short neck of thighbone	Alati
Short outermost bone of the index finger	Alati
Short outermost bone of the thumb	Alati
Short proximal phalanx of finger	Alati
Short proximal phalanx of thumb	Alati
Short toe	Alati
Shortened 1st long bone of hand	Alati
Underdeveloped inner large forearm bone	Alati
Wide innermost wide portion of shankbone bone	Alati
Abnormal morphology of the radius	Väga sageli (80–99%)
Abnormal morphology of ulna	Väga sageli (80–99%)
Abnormality of the shankbone	Väga sageli (80–99%)
Abnormality of the thumb	Väga sageli (80–99%)
Absent middle toe bones	Väga sageli (80–99%)
Absent/small 1st long bone of hand	Väga sageli (80–99%)
Absent/small calf bone	Väga sageli (80–99%)
Absent/small long bones of hand	Väga sageli (80–99%)
Bilateral single transverse palmar creases	Väga sageli (80–99%)
Bowing of the long bones	Väga sageli (80–99%)
Finger bends toward pinky	Väga sageli (80–99%)
Fusion of wrist bones	Väga sageli (80–99%)
Pseudoepiphysis of the 2nd finger	Väga sageli (80–99%)
Short big toe	Väga sageli (80–99%)
Short foot	Väga sageli (80–99%)
Short index fingers and second toes	Väga sageli (80–99%)
Short middle bone of finger	Väga sageli (80–99%)
Short thumb	Väga sageli (80–99%)
Smaller or shorter than typical limbs	Väga sageli (80–99%)
Type C brachydactyly	Väga sageli (80–99%)
Absent/small thumb	Sageli (30–79%)
Complete duplication of outermost bone of the thumb	Sageli (30–79%)
Extra little finger	Sageli (30–79%)
Short calf bone	Sageli (30–79%)
Short long bone of foot	Sageli (30–79%)
Short shinbone	Sageli (30–79%)
Speckled calcifications in the end part of the outermost thumb bone	Sageli (30–79%)
Club feet	Mõnikord (5–29%)
Fused finger bones	Mõnikord (5–29%)
Fused outermost bones of hand	Mõnikord (5–29%)
Metatarsus valgus	Mõnikord (5–29%)
Shortened 2nd long bone of hand	Mõnikord (5–29%)
Wide long bones of hand	Mõnikord (5–29%)
Absent/small middle bone of pinky finger	Pole registreeritud
Broad big toe	Pole registreeritud
Bunion	Pole registreeritud
Medially deviated second toe	Pole registreeritud
Radial deviation of the 2nd finger	Pole registreeritud
Short finger	Pole registreeritud
Short index finger	Pole registreeritud
Triangular shaped middle bone of index finger	Pole registreeritud
Triangular shaped middle little finger bone	Pole registreeritud
Ulnar deviation of the 2nd finger	Pole registreeritud
Webbed 2nd and 3rd toes	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Delayed bone maturation	Alati
Abnormal shape of end part of bone	Väga sageli (80–99%)
Abnormal skeletal development	Väga sageli (80–99%)
Abnormality of the hip bone	Väga sageli (80–99%)
Joint stiffness	Väga sageli (80–99%)
Limitation of joint mobility	Väga sageli (80–99%)
Cone-shaped end part of bone	Sageli (30–79%)
Scoliosis	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Elevated circulating follicle stimulating hormone level	Alati
Elevated circulating luteinizing hormone level	Alati
Hypergonadotropic hypogonadism	Alati

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Primary amenorrhea	Alati
Small uterus	Alati

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Delayed speech and language development	Sageli (30–79%)
Incoordination	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Disproportionate short-limb short stature	Alati
Short stature	Väga sageli (80–99%)

Abnormal tissue mass

Tunnus	Kui sageli seda täheldatakse
Cancer of connective tissue	Väga sageli (80–99%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Narrow nasal bridge	Väga sageli (80–99%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormal fingernails	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga BMPR1B seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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