MCID: ALP089
MIFTS: 27

Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality

Categories: Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental...

MalaCards integrated aliases for Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality:

Name: Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 56 52
Shokeir Syndrome 56 52 58
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 52 71
Congenital Universal Alopecia, Epilepsy, Mental Subnormality and Pyorrhea 52
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
alopecia-epilepsy-pyorrhea-intellectual disability syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases


External Ids:

OMIM 56 104130
MESH via Orphanet 44 C537057
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1863090
Orphanet 58 ORPHA1008
MedGen 41 C1863090
UMLS 71 C1863090

Summaries for Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1008 Definition A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant . Visit the Orphanet disease page for more resources.

MalaCards based summary : Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality, also known as shokeir syndrome, is related to fetal akinesia deformation sequence 1 and cerebrooculofacioskeletal syndrome 1. Affiliated tissues include skin and skeletal muscle, and related phenotypes are eeg abnormality and intellectual disability, mild

More information from OMIM: 104130

Related Diseases for Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental...

Graphical network of the top 20 diseases related to Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality:



Diseases related to Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality

Symptoms & Phenotypes for Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental...

Human phenotypes related to Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
2 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
3 gingivitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000230
4 memory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002354
5 periodontitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000704
6 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
7 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
8 alopecia universalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002289
9 abnormal eyelash morphology 31 hallmark (90%) HP:0000499
10 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
11 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
12 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
13 melanocytic nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000995
14 abnormality of the dentition 58 Very frequent (99-80%)
15 abnormality of the eyelashes 58 Very frequent (99-80%)
16 congenital alopecia totalis 31 HP:0005597

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
periodontitis

Neurologic Central Nervous System:
psychomotor seizures
mental retardation, mild

Skin Nails Hair Hair:
alopecia universalis, congenital

Clinical features from OMIM:

104130

Drugs & Therapeutics for Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental...

Search Clinical Trials , NIH Clinical Center for Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality

Genetic Tests for Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental...

Anatomical Context for Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental...

MalaCards organs/tissues related to Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality:

40
Skin, Skeletal Muscle

Publications for Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental...

Articles related to Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality:

(show top 50) (show all 56)
# Title Authors PMID Year
1
Association of Shokeir syndrome (congenital universal alopecia, epilepsy, mental subnormality and pyorrhea) and giant pigmented nevus. 56 61
8275563 1993
2
Universal permanent alopecia, psychomotor epilepsy, pyorrhea and mental subnormality. 61 56
830443 1977
3
Autistic-Like Traits in Pena-Shokeir Syndrome. 61
30430318 2019
4
Anesthesia management of a newborn with Pena-Shokeir Syndrome. 61
29291469 2018
5
Pena-Shokeir syndrome: current management strategies and palliative care. 61
30498368 2018
6
Otopathologic Findings of Pena-Shokeir Syndrome Type I. 61
27067155 2016
7
Morphological and ultrasonographic study of fetuses with cervical hygroma. A cases series. 61
28174814 2016
8
Arthrogryposis multiplex congenital - multidisciplinary care - including own experience. 61
27941188 2016
9
Prenatal Diagnosis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography. 61
24987567 2014
10
Anaesthesia and orphan disease: anaesthetic management of a child with Pena-Shokeir syndrome. 61
22692041 2012
11
Anesthetic management of three pediatric cases with Pena-Shokeir syndrome. 61
22349748 2012
12
Antenatal ultrasound and MRI findings of Pena-Shokeir syndrome. 61
20938779 2011
13
[Pena-Shokeir syndrome type I--combination of polyhydramnios and pulmonary hypoplasia in fetal akinesia]. 61
20519182 2010
14
Tonic-clonic seizures in a fetus with Pena-Shokeir syndrome. 61
19643800 2009
15
Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging. 61
19194699 2009
16
[Pena-Shokeir syndrome type I, associated to Klippel-Feil syndrome type II in the same family]. 61
17668405 2007
17
[Pena-Shokeir phenotype (fetal akinesia/hypokinesia sequence)]. 61
17297855 2006
18
[Bronchospasm during anesthesia in a patient with Pena-Shokeir syndrome]. 61
16231771 2005
19
Acute respiratory distress in Pena-Shokeir syndrome. 61
15628635 2004
20
An autopsy case of Pena-Shokeir syndrome: severe retardation of skeletal muscle development compared with neuronal abnormalities. 61
12396902 2002
21
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I. 61
11422985 2001
22
Pena-Shokeir phenotype with variable onset in three consecutive pregnancies. 61
11251928 2001
23
[Pena-Shokeir syndrome]. 61
11528857 2001
24
[Pena- Shokeir syndrome]. 61
9577030 1998
25
[The sequence of fetal akinesia/hypokinesia, Pena-Shokeir syndrome, multiple congenital arthrogryposis and/or short umbilical cord: conceptual delimitation]. 61
9577032 1998
26
Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome? 61
9286445 1997
27
Restrictive dermopathy: report and review. 61
9217218 1997
28
The spectrum of arthrogryposis in 33 chinese children. 61
9134190 1997
29
[Akinesia sequence/fetal hypokinesia (Pena-Shokeir syndrome): four case reports]. 61
9173853 1997
30
Fetal seizures: further observations. 61
8841244 1996
31
[A case of pena-shokeir syndrome without response to vibratory acoustic stimulation]. 61
8936116 1996
32
Fetal akinesia-hypokinesia deformation sequence (FADS) in 2 siblings with congenital myotonic dystrophy. 61
7606895 1995
33
[Pena-Shokeir syndrome: report of a case with benign outcome]. 61
7739933 1995
34
[Genetic-morphologic fatal syndromes. Fetal akinesia sequence (Pena-Shokeir syndrome I)]. 61
8367387 1993
35
[Genetic-morphologic fatal syndromes. Cerebro-oculo-facioskeletal syndrome (Pena-Shokeir syndrome II)]. 61
8367388 1993
36
Absent fetal movement response with a blunted cardioacceleratory fetal response to external vibratory acoustic stimulation in a fetus with the Pena-Shokeir syndrome (fetal akinesia and hypokinesia sequence). 61
1550625 1992
37
A dominant-hereditary variation of the Pena-Shokeir syndrome; a case report. 61
2070954 1991
38
[Prenatal diagnosis of Pena-Shokeir syndrome in the 27th week of pregnancy]. 61
2180784 1990
39
[The Pena-Shokeir syndrome]. 61
2807025 1989
40
Antenatal diagnosis of Pena-Shokeir syndrome (type I) with ultrasonography and magnetic resonance imaging. 61
3043297 1988
41
[Review of the Pena-Shokeir syndrome I, Pena-Shokeir II and Neu-Laxova. Clinical and interpretative contribution]. 61
3050422 1988
42
Arthrogryposis multiplex congenita, Pena-Shokeir phenotype, with gastroschisis and agenesis of the leg. 61
2974953 1988
43
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. 61
3278614 1988
44
Pena-Shokeir syndrome. Prenatal diagnosis by ultrasonography. 61
3316696 1987
45
The heterogeneity of the Pena-Shokeir syndrome. 61
3561707 1987
46
[Pena-Shokeir syndrome. Malformed sequence. 2 case reports]. 61
3531401 1986
47
Disorders of neuronal migration: sonographic features. 61
2944786 1986
48
Disturbances in neuronal migration and laminar cortical organization associated with multicystic encephalopathy in the Pena-Shokeir syndrome. 61
3754373 1986
49
[Morphological study of the removed fetus after therapeutic abortion for echographic anomalies (apropos of 42 cases)]. 61
3903051 1985
50
The Pena-Shokeir syndrome: report of nine Dutch cases. 61
3895932 1985

Variations for Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental...

Expression for Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental...

Search GEO for disease gene expression data for Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality.

Pathways for Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental...

GO Terms for Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental...

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