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Traits

Traits linked to PPP1R21

protein phosphatase 1 regulatory subunit 21

The Human Phenotype Ontology links 60 traits to PPP1R21, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

TraitMilyen gyakran fordul elő
Broad columellaMindig
Low hanging columellaMindig
Nasal tip, upturnedMindig
Short noseMindig
Coarse facial featuresGyakran (30–79%)
Corners of eye widely separatedGyakran (30–79%)
Eye foldsGyakran (30–79%)
Flat back of skullGyakran (30–79%)
Full lipsGyakran (30–79%)
High foreheadGyakran (30–79%)
High palateGyakran (30–79%)
Long philtrumGyakran (30–79%)
Narrow foreheadGyakran (30–79%)
Narrow nasal bridgeGyakran (30–79%)
Thick eyebrowGyakran (30–79%)
Upward slanting of the opening between the eyelidsGyakran (30–79%)
Wide nasal bridgeGyakran (30–79%)
Asymmetry of the posterior headNéha (5–29%)
Delayed cranial suture closureNéha (5–29%)
Flattened bony protrusion above eyesNéha (5–29%)
Short chinNéha (5–29%)
Tented mouthNéha (5–29%)

Abnormality of the nervous system

TraitMilyen gyakran fordul elő
Cerebellar vermis hypoplasiaMindig
Decreased reflex responseMindig
Global developmental delayMindig
Severe global developmental delayMindig
VentriculomegalyMindig
Attention deficitGyakran (30–79%)
Cavum septum pellucidumGyakran (30–79%)
Difficulty articulating speechGyakran (30–79%)
Extra-axial cerebrospinal fluid accumulationGyakran (30–79%)
Inability to coordinate movements when walkingGyakran (30–79%)
Inability to walkGyakran (30–79%)
Underdevelopment of part of brain called corpus callosumGyakran (30–79%)
Absent reflexesNéha (5–29%)
Myoclonic seizureNéha (5–29%)

Abnormality of the eye

TraitMilyen gyakran fordul elő
Blue outer white part of eyeballGyakran (30–79%)
Close sightedGyakran (30–79%)
Inward turning cross eyedGyakran (30–79%)
Optic atrophyGyakran (30–79%)
Rotary nystagmusGyakran (30–79%)
Wide-set eyesGyakran (30–79%)

Abnormality of the musculoskeletal system

TraitMilyen gyakran fordul elő
Low muscle toneMindig
Delayed bone maturationGyakran (30–79%)
Flexed joint that cannot be straightenedGyakran (30–79%)
Pigeon chestGyakran (30–79%)
ScoliosisGyakran (30–79%)

Abnormality of the digestive system

TraitMilyen gyakran fordul elő
Chronic constipationGyakran (30–79%)
Feeding difficultiesGyakran (30–79%)
Enlarged liverNéha (5–29%)
Poor suckNéha (5–29%)

Abnormality of limbs

TraitMilyen gyakran fordul elő
Overlapping fingersNéha (5–29%)
Overlapping toeNéha (5–29%)

Abnormality of the cardiovascular system

TraitMilyen gyakran fordul elő
An opening in the wall separating the top two chambers of the heartGyakran (30–79%)
Enlarged and thickened heart muscleNéha (5–29%)

Abnormality of the ear

TraitMilyen gyakran fordul elő
Low-set earsGyakran (30–79%)

Abnormality of the immune system

TraitMilyen gyakran fordul elő
Recurrent respiratory infectionsGyakran (30–79%)

Abnormality of the integument

TraitMilyen gyakran fordul elő
Excessive face hairGyakran (30–79%)

Abnormality of the respiratory system

TraitMilyen gyakran fordul elő
Breathing difficultiesGyakran (30–79%)

Abnormality of the voice

TraitMilyen gyakran fordul elő
Weak cryGyakran (30–79%)

Az, hogy milyen gyakran fordul elő a gén valamelyik állapotával élő emberek körében (a leggyakoribb érték, ahogyan a Human Phenotype Ontology rögzíti). Ezek az oldalak tulajdonságokat és az azok mögött álló kutatásokat ismertetik; nem diagnózist jelentenek. A tünetekkel kapcsolatban orvoshoz vagy genetikai tanácsadóhoz érdemes fordulni.

Forrás

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to PPP1R21 and how often each is seen. Find out more at hpo.jax.org.

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