MCID: ATK002
MIFTS: 21

Atkin-Flaitz Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Atkin-Flaitz Syndrome

MalaCards integrated aliases for Atkin-Flaitz Syndrome:

Name: Atkin-Flaitz Syndrome 56 52 58
Atkin Syndrome 56 52 71
X-Linked Intellectual Disability, Atkin Type 58

Characteristics:

Orphanet epidemiological data:

58
atkin-flaitz syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
x-linked dominant


HPO:

31
atkin-flaitz syndrome:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Atkin-Flaitz Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1193 Definition A rare syndrome characterised by moderate to severe intellectual deficit, short stature , macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked . Visit the Orphanet disease page for more resources.

MalaCards based summary : Atkin-Flaitz Syndrome, also known as atkin syndrome, is related to mental retardation, x-linked 21 and telecanthus, and has symptoms including seizures Affiliated tissues include tongue, and related phenotypes are coarse facial features and intellectual disability

More information from OMIM: 300431

Related Diseases for Atkin-Flaitz Syndrome

Diseases related to Atkin-Flaitz Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked 21 11.3
2 telecanthus 10.5
3 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.5

Symptoms & Phenotypes for Atkin-Flaitz Syndrome

Human phenotypes related to Atkin-Flaitz Syndrome:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 prominent supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0000336
4 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
5 macroorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000053
6 thick vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0012471
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
9 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
10 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
11 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
12 maxillary lateral incisor microdontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001593
13 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
14 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
15 scoliosis 31 HP:0002650
16 kyphosis 31 HP:0002808
17 abnormality of the dentition 58 Very frequent (99-80%)
18 anteverted nares 58 Very frequent (99-80%)
19 intellectual disability, mild 31 HP:0001256
20 prominent forehead 31 HP:0011220
21 thick lower lip vermilion 31 HP:0000179
22 genu valgum 31 HP:0002857
23 frontal bossing 31 HP:0002007
24 genu recurvatum 31 HP:0002816
25 joint laxity 31 HP:0001388
26 downslanted palpebral fissures 31 HP:0000494
27 tall stature 31 HP:0000098
28 tapered finger 31 HP:0001182
29 broad palm 31 HP:0001169
30 short palm 31 HP:0004279
31 exaggerated median tongue furrow 31 HP:0002711
32 widely-spaced maxillary central incisors 31 HP:0001566
33 seizure 31 HP:0001250
34 prominent median palatal raphe 31 HP:0002708
35 heavy supraorbital ridges 31 HP:0002054

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
coarse facial features
prominent forehead
heavy supraorbital ridges

Skeletal Spine:
scoliosis
hyperkyphosis

Genitourinary Internal Genitalia Male:
macroorchidism

Growth Height:
short stature

Skeletal:
joint laxity

Head And Neck Mouth:
exaggerated median tongue furrow
prominent median palatal raphe
thick lips
prominent lower lip

Skeletal Limbs:
genu valga
genu recurvata

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
seizures
mental retardation, moderate to severe
mental retardation, mild (carrier females)

Growth Weight:
obesity

Head And Neck Nose:
broad nasal tip
anteverted nostrils

Skeletal Hands:
short, broad hands
tapered fingers

Head And Neck Teeth:
central incisor gap
microdontia (maxillary lateral incisors)

Clinical features from OMIM:

300431

UMLS symptoms related to Atkin-Flaitz Syndrome:


seizures

Drugs & Therapeutics for Atkin-Flaitz Syndrome

Search Clinical Trials , NIH Clinical Center for Atkin-Flaitz Syndrome

Genetic Tests for Atkin-Flaitz Syndrome

Anatomical Context for Atkin-Flaitz Syndrome

MalaCards organs/tissues related to Atkin-Flaitz Syndrome:

40
Tongue

Publications for Atkin-Flaitz Syndrome

Articles related to Atkin-Flaitz Syndrome:

# Title Authors PMID Year
1
Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family. 61 56
7677138 1995
2
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. 56
27848077 2017
3
A new X-linked mental retardation syndrome. 56
4025397 1985
4
[Macro-orchidism: new pathogenetic and histopathologic aspects]. 61
8192500 1994

Variations for Atkin-Flaitz Syndrome

Expression for Atkin-Flaitz Syndrome

Search GEO for disease gene expression data for Atkin-Flaitz Syndrome.

Pathways for Atkin-Flaitz Syndrome

GO Terms for Atkin-Flaitz Syndrome

Sources for Atkin-Flaitz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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