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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Arthrogryposis (D001176)
..Starting node ..Pena Shokeir syndrome, type 1 (C536647)
Child Nodes:
Sister Nodes:
..Arthrogryposis and ectodermal dysplasia (C537441)
..Arthrogryposis epileptic seizures migrational brain disorder (C537442)
..Arthrogryposis multiplex congenita neurogenic type (C536614)
..Arthrogryposis multiplex congenita whistling face (C538401)
..Arthrogryposis multiplex congenita, distal type 1 (C535378)
..Arthrogryposis multiplex congenita, distal type 2 (C535379)
..Arthrogryposis multiplex congenita, distal, X-linked (C535380)
..Arthrogryposis multiplex with deafness, inguinal hernias, and early death (C535381)
..Arthrogryposis renal dysfunction cholestasis syndrome (C535382)
..ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED (OMIM:300158)
..Arthrogryposis, Distal, Type 10 (C566069)
..ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
..Arthrogryposis, distal, type 2E (C535384)
..Arthrogryposis, Distal, Type 4 (C563791)
..Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies (C565940)
..Arthrogryposis, X-Linked, Type V (C564574)
..Arthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..Boylan Dew Greco syndrome (C537083)
..Bruck syndrome 1 (C537406)
..Bruck syndrome 2 (C537407)
..Camptodactyly-ichthyosis syndrome (C537976)
..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..Cerebrooculofacioskeletal Syndrome 2 (C565185)
..Cerebrooculofacioskeletal Syndrome 4 (C565184)
..Contractures ectodermal dysplasia cleft lip palate (C535465)
..Cyprus facial neuromusculoskeletal syndrome (C536229)
..Distal arthrogryposis Moore Weaver type (C536814)
..Distal arthrogryposis type 2B (C538400)
..EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
..German Syndrome (C562543)
..Gordon syndrome (C537288)
..Hecht syndrome (C535857)
..Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence (C564409)
..Jequier Kozlowski skeletal dysplasia (C537569)
..Johnston Aarons Schelley syndrome (C535883)
..Kuskokwim disease (C538124)
..Ladda Zonana Ramer syndrome (C538135)
..Lethal Arthrogryposis With Anterior Horn Cell Disease (C567502)
..Lethal congenital contracture syndrome 1 (C537194)
..Lethal Congenital Contracture Syndrome 2 (C564369)
..Massa Casaer Ceulemans syndrome (C536031)
..Minicore myopathy, antenatal onset, with arthrogryposis (C537474)
..Multiple Pterygium Syndrome, Autosomal Dominant (C566739)
..MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
..Muscular Dystrophy, Congenital, Producing Arthrogryposis (C564985)
..Neuropathy, congenital, with arthrogryposis multiplex (C535714)
..Oculomelic amyoplasia (C537737)
..Pelvic dysplasia arthrogryposis of lower limbs (C535548)
..Pena Shokeir syndrome, type 1 (C536647)
..Podder-Tolmie syndrome (C537518)
..Ray Peterson Scott syndrome (C535292)
..Spondylohypoplasia, arthrogryposis and popliteal pterygium (C535790)
..Spranger Schinzel Myers syndrome (C535801)
..Tomaculous neuropathy (C536965)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8769

Name:

Pena Shokeir syndrome, type 1

Definition:

Alternative IDs:

OMIM:208150

ParentIDs:

MESH:D001176

TreeNumbers:

C05.550.150/C536647 |C05.651.102/C536647 |C05.660.077/C536647 |C16.131.621.077/C536647

Synonyms:

Arthrogryposis multiplex congenita pulmonary hypoplasia |Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings |Arthrogryposis multiplex congenita with pulmonary hypoplasia |FADS |Fetal akinesia defor

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C536647
MeSH: C536647
OMIM: 208150;

Genes: DOK7; RAPSN;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001438	Abnormal abdomen morphology
3	HP:0002644	Abnormality of pelvic girdle bone morphology
4	HP:0001331	Absent septum pellucidum
5	HP:0002804	Arthrogryposis multiplex congenita
6	HP:0000581	Blepharophimosis
7	HP:0100490	Camptodactyly of finger
8	HP:0002389	Cavum septum pellucidum
9	HP:0001321	Cerebellar hypoplasia
10	HP:0000175	Cleft palate
11	HP:0000028	Cryptorchidism
12	HP:0000437	Depressed nasal tip
13	HP:0003070	Elbow ankylosis
14	HP:0001989	Fetal akinesia sequence
15	HP:0003700	Generalized amyotrophy
16	HP:0000218	High palate
17	HP:0002705	High, narrow palate
18	HP:0000238	Hydrocephalus
19	HP:0000316	Hypertelorism
20	HP:0001511	Intrauterine growth retardation
21	HP:0000343	Long philtrum
22	HP:0000347	Micrognathia
23	HP:0000160	Narrow mouth
24	HP:0001561	Polyhydramnios
25	HP:0000358	Posteriorly rotated ears
26	HP:0001622	Premature birth
27	HP:0000520	Proptosis
28	HP:0000508	Ptosis
29	HP:0002089	Pulmonary hypoplasia
30	HP:0001838	Rocker bottom foot
31	HP:0000470	Short neck
32	HP:0012745	Short palpebral fissure
33	HP:0001196	Short umbilical cord
34	HP:0003100	Slender long bone
35	HP:0001518	Small for gestational age
36	HP:0006266	Small placenta
37	HP:0003826	Stillbirth	HP:0040284
38	HP:0001762	Talipes equinovarus
39	HP:0000506	Telecanthus
40	HP:0000883	Thin ribs
41	HP:0005257	Thoracic hypoplasia
42	HP:0009487	Ulnar deviation of the hand
43	HP:0001193	Ulnar deviation of the hand or of fingers of the hand

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_005592.3(MUSK):c.40dupA (p.Thr14Asnfs)	4593	MUSK	Pathogenic	863223335	RCV000170587;	N	MedGen:C1276035,OMIM:208150,SNOMED CT:401138005	9	113431224	113431224	NM_005592.3:c.40dupA	NP_005583.1:p.Thr14Asnfs	NC_000009.11:g.113431224dupA	OMIM Allelic Variant:601296.0007	C1276035 208150 Pena-Shokeir syndrome type I
NM_005055.4(RAPSN):c.829A>G (p.Thr277Ala)	5913	RAPSN	Likely pathogenic	863224911	RCV000200529;	N	MedGen:C1276035,OMIM:208150,SNOMED CT:401138005; MedGen:C1837091,OMIM:608931	11	47463246	47463246	NM_005055.4:c.829A>G	NP_005046.2:p.Thr277Ala	NC_000011.9:g.47463246T>C	-	C1837091 608931 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; C1276035 208150 Pena-Shokeir syndrome type I
NM_005055.4(RAPSN):c.566C>T (p.Ala189Val)	5913	RAPSN	Pathogenic	121909257	RCV000008525;	N	MedGen:C1276035,OMIM:208150,SNOMED CT:401138005	11	47464332	47464332	NM_005055.4:c.566C>T	NP_005046.2:p.Ala189Val	NC_000011.9:g.47464332G>A	OMIM Allelic Variant:601592.0014	C1276035 208150 Pena-Shokeir syndrome type I
NM_005055.4(RAPSN):c.524A>G (p.Gln175Arg)	5913	RAPSN	Likely pathogenic	863224912	RCV000200529;	N	MedGen:C1276035,OMIM:208150,SNOMED CT:401138005; MedGen:C1837091,OMIM:608931	11	47469371	47469371	NM_005055.4:c.524A>G	NP_005046.2:p.Gln175Arg	NC_000011.9:g.47469371T>C	-	C1837091 608931 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; C1276035 208150 Pena-Shokeir syndrome type I
NM_005055.4(RAPSN):c.416T>C (p.Phe139Ser)	5913	RAPSN	Pathogenic	121909256	RCV000008524;	N	MedGen:C1276035,OMIM:208150,SNOMED CT:401138005	11	47469479	47469479	NM_005055.4:c.416T>C	NP_005046.2:p.Phe139Ser	NC_000011.9:g.47469479A>G	OMIM Allelic Variant:601592.0013	C1276035 208150 Pena-Shokeir syndrome type I