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Gene: Akap9 MGI:2178217

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Gene Summary

Name:
A kinase (PRKA) anchor protein (yotiao) 9
Synonyms:
G1-448-15,  5730481H23Rik,  repro12,  AKAP450,  mei2-5

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating LDL cholesterol level Akap9tm1a(KOMP)Wtsi HET Early adult 2.06×10-10
preweaning lethality, incomplete penetrance Akap9tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased circulating alkaline phosphatase level Akap9tm1a(KOMP)Wtsi HET Early adult 1.24×10-19
decreased circulating cholesterol level Akap9tm1a(KOMP)Wtsi HET Early adult 2.10×10-11
decreased circulating HDL cholesterol level Akap9tm1a(KOMP)Wtsi HET Early adult 2.85×10-12
increased bone mineral density Akap9tm1a(KOMP)Wtsi HET Early adult 6.79×10-05
decreased circulating serum albumin level Akap9tm1a(KOMP)Wtsi HET Early adult 8.28×10-08
abnormal head morphology Akap9tm1a(KOMP)Wtsi HET Early adult 4.34×10-07
decreased total body fat amount Akap9tm1a(KOMP)Wtsi HET Early adult 1.22×10-10
decreased body weight Akap9tm1a(KOMP)Wtsi HET Early adult 4.09×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote Ambiguous
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Akap9tm1a(KOMP)Wtsi
head, WT, Female, WTSI
Akap9tm1a(KOMP)Wtsi
forearm, WT, Female, WTSI
Akap9tm1a(KOMP)Wtsi
body, WT, Male, WTSI
Akap9tm1a(KOMP)Wtsi
head, WT, Male, WTSI
Akap9tm1a(KOMP)Wtsi
head, WT, Male, WTSI

View all 137 images

Akap9tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Akap9tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Akap9tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Akap9tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Akap9tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

View all 6 images

Akap9tm1a(KOMP)Wtsi
corpus callosum, decreased corpus callosum size, HET, Male, WTSI
Akap9tm1a(KOMP)Wtsi
corpus callosum, HET, Male, WTSI
Akap9tm1a(KOMP)Wtsi
decreased corpus callosum size, corpus callosum, HET, Male, WTSI
Akap9tm1a(KOMP)Wtsi
eye, abnormal retinal blood vessel pattern, HOM, Female, WTSI
Akap9tm1a(KOMP)Wtsi
eye, abnormal retinal blood vessel pattern, HOM, Female, WTSI

Human diseases caused by Akap9 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Akap9 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Brugada Syndrome
ORPHA:130
Long Qt Syndrome 11
OMIM:611820

The table below shows human diseases predicted to be associated to Akap9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... ORPHA:399805
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... ORPHA:98798
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619949
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... OMIM:246700
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Analbuminemia
Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr... OMIM:616000
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:616950
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Young Syndrome
Azoospermia OMIM:279000
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... OMIM:619868
Spermatogenic Failure 28
Decreased testicular size, Male infertility, Elevated circulating luteinizing hormone level, Non-... OMIM:618086
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Infertility, Azoospermia, Elevated circulating luteinizi... OMIM:229070
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Radial bowing, Lung abscess, Hypoplasia of ... OMIM:241600
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... OMIM:614840
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplasia of the ovary,... OMIM:612885
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... ORPHA:52901
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Failure to thrive, Increased circulating creatine kinase MM isoform, Hypoalbu... OMIM:613752
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Hypoproteinemia, Lymphopenia OMIM:207731
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Clinodactyly of the 5th finger, Lymphopenia ORPHA:1116
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Failure ... OMIM:267700
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Refractory Celiac Disease
Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio... ORPHA:398063
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Connective tissue nevi, Osteopoikilosis OMIM:166700
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Congenital Analbuminemia
Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem... ORPHA:86816
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Failure to thrive OMIM:615198
Immunodeficiency 27A
Anemia, Weight loss, Hepatosplenomegaly, Hypoplasia of the femoral head, Thrombocytosis, Leukocyt... OMIM:209950
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Lymphopenia, Hypoprotein... ORPHA:90362
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Failure to thrive, Severe B lymphocytopenia,... OMIM:603554
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Pancytopenia, Failure to thrive, Increased circulating... OMIM:616050
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Failure to thrive, Decreased LDL cholesterol concentration, Decreased HDL ch... OMIM:616834
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thriv... OMIM:603553
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... OMIM:241520
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... ORPHA:103910
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia, Type II diabetes mellitus OMIM:615703
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Erlenmeyer flask deformity of the femurs, Hypersplenism, Hypocholesterolemia, Thrombocyto... OMIM:610539
Leishmaniasis
Leukopenia, Anemia, Abnormal oral cavity morphology, Weight loss, Abnormal macrophage morphology,... ORPHA:507
Ataxia-Oculomotor Apraxia 4
Obesity, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:616267
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Johanson-Blizzard Syndrome
Anemia, Delayed eruption of teeth, Microdontia, Oligodontia, Failure to thrive, Diabetes mellitus... ORPHA:2315
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypo... OMIM:614837
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Sinusitis, Eosinophilia, Impaired oxidati... OMIM:226990
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Melorheostosis
Arthritis, Increased bone mineral density, Joint stiffness, Failure to thrive, Hyperostosis, Atyp... ORPHA:2485
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Azoospermia, Male hypo... OMIM:228300
Nephrotic Syndrome, Type 1
Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Clubbing of fingers, Clubbing, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, H... OMIM:226300
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia, Gingival bleeding ORPHA:99828
Galloway-Mowat Syndrome 6
Decreased body weight, High palate, Wide mouth, Microdontia, Clinodactyly of the 5th finger, Down... OMIM:618347
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia OMIM:109130
Isolated Osteopoikilosis
Tarsal sclerosis, Abnormal bone ossification, Keloids, Increased bone mineral density, Sclerosis ... ORPHA:166119
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Micropenis OMIM:614897
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, Hypocholesterol... OMIM:266510
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Decreased body ma... ORPHA:247585
Alg6-Cdg
Decreased LDL cholesterol concentration, Shortening of all distal phalanges of the fingers, Macro... ORPHA:79320
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... OMIM:308240
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A... ORPHA:320391
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Eosinophilic Gastroenteritis
Anemia, Weight loss, Steatorrhea, Elevated circulating C-reactive protein concentration, Eosinoph... ORPHA:2070
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... OMIM:278850
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Micrognathia, Inguinal hernia, Thin upper lip vermilion, Hypoproteinemia, Alveolar r... OMIM:235255
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Perineal hypospadias, Bifid s... ORPHA:753
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Decreased body weight, Abnormal circulating fatty-acid ... ORPHA:2298
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Nephrotic Syndrome, Type 11
Hypercholesterolemia, High palate, Micrognathia, Clinodactyly, Partial duplication of thumb phala... OMIM:616730
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Ij
Micrognathia, Hypoproteinemia, Clinodactyly of the 5th finger, Flexion contracture OMIM:608093
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Potocki-Lupski Syndrome
Dental malocclusion, Mandibular prognathia, High palate, Wide mouth, Small for gestational age, M... OMIM:610883
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia OMIM:618805
Squalene Synthase Deficiency
Knee flexion contracture, 2-3 toe syndactyly, Retrognathia, Decreased LDL cholesterol concentrati... OMIM:618156
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Rickets, Failure to thrive, Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Decreased body weight, Neutropenia, Lymphocytosis, ... ORPHA:1667
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male infertility, Male pse... ORPHA:754
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Long philtrum, Camptodactyly, Failure to thrive, Elevated circulating creatinine concentr... OMIM:608104
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Arachnodactyly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia OMIM:619013
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Elevated circulating creatine kinase concentration, Failure to thrive, Hypoproteinemia, L... OMIM:615895
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating ferritin concentra... ORPHA:158061
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp... ORPHA:752
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Micrognathia, Hepatosplenomegaly, Inguinal hernia, Thin upper lip vermilion, Hypopro... ORPHA:1655
Alg12-Cdg
B lymphocytopenia, Short long bone, Micrognathia, Camptodactyly, Clinodactyly of the 5th finger, ... ORPHA:79324
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Flynn-Aird Syndrome
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... OMIM:136300
Functioning Gonadotropic Adenoma
Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating... ORPHA:91348
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Hypogonadism-Cataract Syndrome
Male hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea OMIM:614858
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... ORPHA:90797
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Chédiak-Higashi Syndrome
Splenomegaly, Anemia, Neutropenia, Periodontitis, Atrophy of alveolar ridges, Pancytopenia, Hepat... ORPHA:167
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Clinodactyly, Lipodystrophy, Failure to thrive, Eleva... OMIM:618048
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Type II diabetes mellitus, Insulin resistance, Everted lower lip vermi... ORPHA:181393
Osteochondrosis Of The Metatarsal Bone
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones ORPHA:564003
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Increased circulat... ORPHA:8
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis ORPHA:3416
Intermediate Osteopetrosis
Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Hypocalcemia, Generali... ORPHA:210110
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa... ORPHA:566943
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Splenomegaly, Flexion contracture, Anemia, Thick vermilion border, Flared iliac wing,... OMIM:617303
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... OMIM:144250
Alg1-Cdg
Limitation of joint mobility, Hypoalbuminemia ORPHA:79327
Avian Influenza
Leukopenia, Hypoxemia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated ... ORPHA:454836
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular si... ORPHA:432
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:251510
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Fa... OMIM:242150
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Pan... ORPHA:158048
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Azoo... ORPHA:261519
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Flexion contracture, Decreased body weight, Ankyloglossia, Decreased plasma carnitine, De... ORPHA:89842
Congenital Enterovirus Infection
Leukopenia, Anemia, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Thrombocytopeni... ORPHA:292
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Hypertriglyceridemia, Hyperuricemia, Increas... ORPHA:90041
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Azoospermia, Testicular atrophy, Cryptorchidism, Hypogonadotropic hypo... OMIM:308700
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... ORPHA:86839
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Fail... ORPHA:88618
Amoebiasis Due To Entamoeba Histolytica
Anemia, Weight loss, Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia ORPHA:67
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Hypertriglyceridemia, Steatorrhea ORPHA:71
Hepatoportal Sclerosis
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... ORPHA:64743
46,Xx Ovotesticular Disorder Of Sex Development
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop... ORPHA:540
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoplastic iliac wing, Retrognathia, Narrow palate, Short foot, Small hand, Cutaneous finger syn... OMIM:235510
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Xfe Progeroid Syndrome
Enamel hypoplasia, Corneal scarring, Cachexia, Failure to thrive, Premature loss of teeth, Hypoal... OMIM:610965
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to gro... ORPHA:280679
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Hypo... OMIM:251880
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Steatorrhea, Hypoalbuminemia OMIM:602579
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Abnormal subcutaneous fat tissue distribution, Steatorrhea, Failure to thriv... OMIM:212065
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Decreased body weight, Type I diabetes mellitus, Elevate... ORPHA:96180
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Failure to thrive, Flexion contracture, Hypoalbuminemia ORPHA:367
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Increased bone mineral density, Ankylosis,... OMIM:239000
Mandibuloacral Dysplasia
Acroosteolysis of distal phalanges (feet), Micrognathia, Abnormal tongue morphology, Increased in... ORPHA:2457
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density, Failure t... OMIM:259700
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Lipodystrophy, Diabe... OMIM:612526
49,Xyyyy Syndrome
Abnormality of the testis size, External genital hypoplasia, Decreased testicular size, Azoosperm... ORPHA:99330
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... ORPHA:99429
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis OMIM:122860
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormality of tibia m... ORPHA:1802
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulato... ORPHA:37042
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to gro... OMIM:300845
Ring Chromosome 21 Syndrome
Infertility, Azoospermia, Amenorrhea ORPHA:1445
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Neonatal hypoglycemia, Elevated circulating creatine kinase concentrat... OMIM:619055
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
46,Xx Sex Reversal 4
Ambiguous genitalia, Fused labia majora, Penoscrotal hypospadias, Gonadal dysgenesis, Ovotestis, ... OMIM:617480
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Hypogonadotropic hypogonadism, Amenorrhea OMIM:235200
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Bacterial Toxic-Shock Syndrome
Cellulitis, Fasciitis, Increased circulating metamyelocyte count, Elevated circulating creatine k... ORPHA:36234
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Coxa valga, Micrognathia, Flattened epiphysis, Tooth agene... OMIM:618363
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis OMIM:607634
Galloway-Mowat Syndrome 3
High palate, Micrognathia, Camptodactyly, Hip dislocation, Failure to thrive, Narrow mouth, Arach... OMIM:617729
Juvenile Polyposis Of Infancy
Anemia, Cachexia, Clubbing of fingers, Broad thumb, Subcutaneous lipoma, Midclavicular hypoplasia... ORPHA:79076
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Anemia, Scarring, Atrophic scars, Failure to thrive, Oral mucosal blisters, Sm... ORPHA:79396
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Ambiguous genitalia, female, Decreased testicular size, Decre... ORPHA:90791
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures OMIM:166740
Abetalipoproteinemia
Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipo... ORPHA:14
48,Xxyy Syndrome
Decreased testicular size, Infertility, Hypoplasia of penis, Azoospermia, Hypergonadotropic hypog... ORPHA:10
Aredyld Syndrome
Mandibular prognathia, Advanced eruption of teeth, Type II diabetes mellitus, Cachexia, Craniofac... ORPHA:1133
Buschke-Ollendorff Syndrome
Flexion contracture, Recurrent fractures, Connective tissue nevi, Arthritis, Osteopoikilosis, Gen... ORPHA:1306
Liver Disease, Severe Congenital
Leukopenia, Anemia, Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Lym... OMIM:619991
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Anterior h... ORPHA:91351
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Clubbing, Failure to thrive, Hypoalbuminemia OMIM:174900
Laron Syndrome
Short toe, Delayed eruption of teeth, Micrognathia, Microdontia, Brachydactyly, Hypoglycemia, Tru... ORPHA:633
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os... OMIM:166600
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular osteomyelit... ORPHA:53
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Everted upper lip vermilion, B lymphocytopenia, Decreased proportion of CD8-positive, alp... OMIM:619824
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... ORPHA:90363
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Splenomegaly, Abnormality of iron homeostasis, Avascular necrosis of the capi... OMIM:222470
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... OMIM:616425
Al Amyloidosis
Anemia, Howell-Jolly bodies, Weight loss, Macroglossia, Increased circulating NT-proBNP concentra... ORPHA:85443
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Aphthous ulcer, B lymphocytopenia, Neutrop... OMIM:301082
46,Xy Sex Reversal 8
Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism OMIM:614279
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Decreased body weight, Recurrent fractures, Increased bone mineral den... OMIM:614856
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypoglycemia, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Failure to thrive, Sinusitis ORPHA:277
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short phalanx of finger, Flexion contracture, Acroosteolysis of distal phalanges (feet), Microgna... OMIM:608612
Hepatocellular Carcinoma
Anemia, Weight loss, Liver abscess, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, P... ORPHA:88673
Aicardi-Goutieres Syndrome 9
Anemia, Hemolytic anemia, Weight loss, Hepatosplenomegaly, Failure to thrive, Hypoalbuminemia OMIM:619487
Dubowitz Syndrome
High palate, Delayed eruption of teeth, Micrognathia, Velopharyngeal insufficiency, Acute lymphob... OMIM:223370
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Kaufman Oculocerebrofacial Syndrome
High palate, Micrognathia, Clinodactyly of the 5th finger, Diastema, Metatarsus adductus, Failure... OMIM:244450
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Coxa valga, Acroosteolysis of distal phalanges (feet), Reduced subcutaneous ... OMIM:248370
Galloway-Mowat Syndrome 1
High palate, Joint contracture of the hand, Wide mouth, Small for gestational age, Micrognathia, ... OMIM:251300
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Flexion contracture, Hernia, Thick vermilion border, Macroglossia, Hepatosple... ORPHA:505248
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Increased bone mineral density, Hypocalcemic seizures, Hy... ORPHA:36913
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Increased blood urea nitrogen, Failure to thrive, Hypoglycemia, Elevated circulatin... OMIM:617872
Majeed Syndrome
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Weight loss, Increased... ORPHA:77297
Immunodeficiency 76
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia OMIM:619164
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Clavicular sclerosis, ... OMIM:144750
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Micrognathia, Narrow mouth OMIM:618810
Smith-Lemli-Opitz Syndrome
Hip subluxation, 2-3 toe syndactyly, Micrognathia, Epiphyseal stippling, Hip dislocation, Bifid u... OMIM:270400
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Incr... ORPHA:1772
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hypertyrosinemia, Conjugated hyperbili... OMIM:617156
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis, Lymphopenia, ... OMIM:615518
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, High palate, Small for gestational age, Unconjugated hyperbilirubinemia, Pancytopenia, Fa... OMIM:613658
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... ORPHA:79237
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Recurrent sinusitis, Absent circulating B cells OMIM:619707
Glycogen Storage Disease Ixa1
Hyperuricemia, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly OMIM:306000
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, Oral ulcer, T lymphocytopenia, Weight loss, B lymphocy... OMIM:619381
Multiple Myeloma
Anemia, Weight loss, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinem... ORPHA:29073
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Juvenile Polyposis Syndrome
Multiple lipomas, Anemia, Brain abscess, Clubbing of fingers, Failure to thrive, Rectocele, Hypop... ORPHA:2929
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyperbilirubinemia, Hypoalbumi... ORPHA:186
Wilson Disease
Anemia, Hemolytic anemia, Glycosuria, Decreased circulating ceruloplasmin concentration, Increase... OMIM:277900
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Increased bone density wit... ORPHA:94089
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia OMIM:619437
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis, Osteoarthr... ORPHA:93284
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... ORPHA:90650
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... ORPHA:49042
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Transient hypophosphatemia, Small for gestational age, Increased bone mineral ... OMIM:127000
Diastrophic Dysplasia
Camptodactyly of finger, Increased bone mineral density, Joint stiffness, Joint hyperflexibility ORPHA:628
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly, Weight loss ORPHA:100024
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Leukodystrophy, Hypomyelinating, 24
Tongue fasciculations, Flexion contracture, B lymphocytopenia OMIM:619851
48,Xxxy Syndrome
Hypogonadism, Decreased testicular size, Infertility, Hypoplasia of penis, Azoospermia, Cryptorch... ORPHA:96263
Oligodontia
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Marburg Hemorrhagic Fever
Leukopenia, Hypokalemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Lym... ORPHA:99826
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermitte... OMIM:150550
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Failur... OMIM:618108
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia, Hypoalbuminemia OMIM:254900
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Monocytopenia, Cellulitis, Impaired neutrophil chemotaxis, B lymph... OMIM:618986
49,Xxxxy Syndrome
Hypogonadism, Decreased testicular size, Infertility, Hypoplasia of penis, Azoospermia, Cryptorch... ORPHA:96264