Deeah Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

DEEAH MCID: DHS002 MIFTS: 23	Deeah Syndrome (DEEAH) Categories: Blood diseases, Genetic diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Deeah Syndrome

MalaCards integrated aliases for Deeah Syndrome:

Name: Deeah Syndrome ⁵⁷ ⁶

Developmental Delay with Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities ⁵⁷

Deeah ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
variable features
death in childhood (in some patients)
multisystemic disorder

HPO:

³¹

deeah syndrome:
Onset and clinical course death in infancy death in childhood death in adolescence
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 619004

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Summaries for Deeah Syndrome

OMIM® : ⁵⁷ DEEAH syndrome is an autosomal recessive multisystemic disorder with onset in early infancy. Affected individuals usually present in the perinatal period with respiratory insufficiency, apneic episodes, and generalized hypotonia. The patients have failure to thrive and severely impaired global development with poor acquisition of motor, cognitive, and language skills. Other common features include endocrine, pancreatic exocrine, and autonomic dysfunction, as well as hematologic disturbances, mainly low hemoglobin. Patients also have dysmorphic and myopathic facial features. Additional more variable features include seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur (summary by Schneeberger et al., 2020). (619004) (Updated 05-Mar-2021)

MalaCards based summary : Deeah Syndrome, is also known as developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities. An important gene associated with Deeah Syndrome is MADD (MAP Kinase Activating Death Domain). Affiliated tissues include testes, pituitary and eye, and related phenotypes are eeg abnormality and scoliosis

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Related Diseases for Deeah Syndrome

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Symptoms & Phenotypes for Deeah Syndrome

Human phenotypes related to Deeah Syndrome:

³¹ (show top 50) (show all 60)

#	Description	HPO Frequency	HPO Source Accession
1	eeg abnormality ³¹	very rare (1%)	HP:0002353
2	scoliosis ³¹	very rare (1%)	HP:0002650
3	dysphagia ³¹	very rare (1%)	HP:0002015
4	high palate ³¹	very rare (1%)	HP:0000218
5	short neck ³¹	very rare (1%)	HP:0000470
6	hearing impairment ³¹	very rare (1%)	HP:0000365
7	hepatomegaly ³¹	very rare (1%)	HP:0002240
8	delayed skeletal maturation ³¹	very rare (1%)	HP:0002750
9	narrow palate ³¹	very rare (1%)	HP:0000189
10	delayed speech and language development ³¹	very rare (1%)	HP:0000750
11	malabsorption ³¹	very rare (1%)	HP:0002024
12	short nose ³¹	very rare (1%)	HP:0003196
13	neonatal hypotonia ³¹	very rare (1%)	HP:0001319
14	short stature ³¹	very rare (1%)	HP:0004322
15	cryptorchidism ³¹	very rare (1%)	HP:0000028
16	hypohidrosis ³¹	very rare (1%)	HP:0000966
17	intrauterine growth retardation ³¹	very rare (1%)	HP:0001511
18	wide intermamillary distance ³¹	very rare (1%)	HP:0006610
19	retrognathia ³¹	very rare (1%)	HP:0000278
20	low-set ears ³¹	very rare (1%)	HP:0000369
21	low posterior hairline ³¹	very rare (1%)	HP:0002162
22	epicanthus ³¹	very rare (1%)	HP:0000286
23	myopia ³¹	very rare (1%)	HP:0000545
24	thrombocytopenia ³¹	very rare (1%)	HP:0001873
25	exocrine pancreatic insufficiency ³¹	very rare (1%)	HP:0001738
26	motor delay ³¹	very rare (1%)	HP:0001270
27	neonatal respiratory distress ³¹	very rare (1%)	HP:0002643
28	narrow mouth ³¹	very rare (1%)	HP:0000160
29	impaired pain sensation ³¹	very rare (1%)	HP:0007328
30	micropenis ³¹	very rare (1%)	HP:0000054
31	polyhydramnios ³¹	very rare (1%)	HP:0001561
32	long philtrum ³¹	very rare (1%)	HP:0000343
33	short philtrum ³¹	very rare (1%)	HP:0000322
34	high forehead ³¹	very rare (1%)	HP:0000348
35	chronic diarrhea ³¹	very rare (1%)	HP:0002028
36	severe global developmental delay ³¹	very rare (1%)	HP:0011344
37	decreased body weight ³¹	very rare (1%)	HP:0004325
38	neonatal hypoglycemia ³¹	very rare (1%)	HP:0001998
39	panhypopituitarism ³¹	very rare (1%)	HP:0000871
40	overlapping fingers ³¹	very rare (1%)	HP:0010557
41	alacrima ³¹	very rare (1%)	HP:0000522
42	short palpebral fissure ³¹	very rare (1%)	HP:0012745
43	self-mutilation ³¹	very rare (1%)	HP:0000742
44	hypermetropia ³¹	very rare (1%)	HP:0000540
45	esotropia ³¹	very rare (1%)	HP:0000565
46	anterior pituitary hypoplasia ³¹	very rare (1%)	HP:0010627
47	narrow forehead ³¹	very rare (1%)	HP:0000341
48	prominent nasal tip ³¹	very rare (1%)	HP:0005274
49	chronic constipation ³¹	very rare (1%)	HP:0012450
50	delayed cns myelination ³¹	very rare (1%)	HP:0002188

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Growth Other:
failure to thrive
poor overall growth

Abdomen Gastrointestinal:
dysphagia
malabsorption
gastroesophageal reflux
feeding difficulties
diarrhea
more

Head And Neck Neck:
short neck

Abdomen Liver:
hepatomegaly

Skeletal Pelvis:
hip dysplasia

Head And Neck Eyes:
strabismus
myopia
poor eye contact
esotropia
downslanting palpebral fissures
more

Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss (in some patients)

Genitourinary External Genitalia Male:
micropenis

Neurologic Central Nervous System:
inability to walk
autonomic dysfunction
seizures (in some patients)
hypotonia, generalized
impaired intellectual development
more

Skeletal Feet:
cutaneous syndactyly
overlapping digits

Skin Nails Hair Skin:
decreased sweating

Genitourinary Internal Genitalia Male:
undescended testes

Prenatal Manifestations Movement:
decreased fetal movements

Metabolic Features:
temperature dysregulation

Skeletal Spine:
scoliosis

Head And Neck Mouth:
high palate
open mouth
small mouth

Abdomen Spleen:
splenomegaly

Head And Neck Nose:
depressed nasal bridge
short nose
hypoplastic nasal alae

Endocrine Features:
hypoglycemia
growth hormone deficiency
thyroid dysfunction
pituitary dysfunction

Head And Neck Face:
retrognathia
micrognathia
long philtrum
short philtrum
high forehead
more

Hematology:
thrombocytopenia
low hemoglobin

Neurologic Peripheral Nervous System:
self-mutilation
decreased pain sensation

Skeletal Hands:
cutaneous syndactyly
overlapping digits

Skeletal:
delayed bone age
contractures, distal

Abdomen External Features:
distended abdomen

Respiratory:
apneic episodes
respiratory insufficiency, perinatal

Abdomen Pancreas:
pancreatic exocrine insufficiency

Clinical features from OMIM®:

619004 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Deeah Syndrome

Search Clinical Trials , NIH Clinical Center for Deeah Syndrome

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Genetic Tests for Deeah Syndrome

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Anatomical Context for Deeah Syndrome

MalaCards organs/tissues related to Deeah Syndrome:

⁴⁰

Testes, Pituitary, Eye, Bone, Heart, Thyroid

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Publications for Deeah Syndrome

Articles related to Deeah Syndrome:

#	Title	Authors	PMID	Year
1	Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. ⁶ ⁵⁷	Schneeberger PE...Kutsche K	32761064	2020
2	Expanding the genetic heterogeneity of intellectual disability. ⁵⁷	Anazi S...Alkuraya FS	28940097	2017

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Genes for Deeah Syndrome

Genes related to Deeah Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MADD	MAP Kinase Activating Death Domain	Protein Coding	907.54	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Variants (show sections)

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Variations for Deeah Syndrome

ClinVar genetic disease variations for Deeah Syndrome:

⁶

#	Gene	Name	Type	Significance	ClinVarId	GRCh37 Pos	GRCh38 Pos
1	MADD	NM_003682.4(MADD):c.2816+1G>A	SNV	Pathogenic	973492	11:47311045-47311045	11:47289494-47289494
2	MADD	NM_003682.4(MADD):c.914G>T (p.Gly305Val)	SNV	Pathogenic	978083	11:47297704-47297704	11:47276153-47276153
3	MADD	NM_003682.4:c.(1862+1_1863-1)_(3759+1_3760-1)del	Deletion	Pathogenic	978084
4	MADD	NM_003682.4(MADD):c.963+1G>A	SNV	Pathogenic	978085	11:47297754-47297754	11:47276203-47276203
5	MADD	NM_003682.4(MADD):c.770C>T (p.Ser257Phe)	SNV	Pathogenic	978086	11:47297560-47297560	11:47276009-47276009

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Expression for Deeah Syndrome

Search GEO for disease gene expression data for Deeah Syndrome.

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Pathways for Deeah Syndrome

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GO Terms for Deeah Syndrome

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Sources for Deeah Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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²⁰ GARD

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Deeah Syndrome (DEEAH)

Aliases & Classifications for Deeah Syndrome

MalaCards integrated aliases for Deeah Syndrome:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Deeah Syndrome

Related Diseases for Deeah Syndrome

Symptoms & Phenotypes for Deeah Syndrome

Human phenotypes related to Deeah Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Deeah Syndrome

Genetic Tests for Deeah Syndrome

Anatomical Context for Deeah Syndrome

MalaCards organs/tissues related to Deeah Syndrome:

Publications for Deeah Syndrome

Articles related to Deeah Syndrome:

Genes for Deeah Syndrome

Genes related to Deeah Syndrome (1 elite genes):

Variations for Deeah Syndrome

ClinVar genetic disease variations for Deeah Syndrome:

Expression for Deeah Syndrome

Pathways for Deeah Syndrome

GO Terms for Deeah Syndrome

Sources for Deeah Syndrome