Gene Summary

Name:
RAD50 interactor 1
Synonyms:
1500019C06Rik,  2810450M21Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
embryonic lethality prior to tooth bud stage Rint1tm1b(KOMP)Wtsi HOM   E12.5 0.00
decreased circulating total protein level Rint1tm1b(KOMP)Wtsi HET   Early adult 4.27×10-05
decreased circulating serum albumin level Rint1tm1b(KOMP)Wtsi HET Early adult 4.81×10-05
decreased circulating free fatty acids level Rint1tm1b(KOMP)Wtsi HET Early adult 3.48×10-07
decreased circulating glucose level Rint1tm1b(KOMP)Wtsi HET Early adult 6.87×10-08
embryonic lethality prior to organogenesis Rint1tm1b(KOMP)Wtsi HOM   E9.5 0.00
increased circulating bilirubin level Rint1tm1b(KOMP)Wtsi HET   Early adult 4.23×10-05
preweaning lethality, complete penetrance Rint1tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased circulating calcium level Rint1tm1b(KOMP)Wtsi HET Early adult 4.80×10-11

Download data as:  TSV  XLS

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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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 50% (1 of 2)
Dorsal root ganglion N/A heterozygote 100% (1 of 1)
Ear N/A heterozygote 50% (1 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 50% (1 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (1 of 1)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 50% (1 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

39 Images

Sleep Wake

Wake state (bmp file)

8 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Embryo LacZ

LacZ images wholemount

8 Images

Eye Morphology

Images Slit Lamp

1 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Electroretinography

Rod waveform (pdf format)

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electroretinography

Cone waveform (pdf format)

3 Images

Human diseases caused by Rint1 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 Rint1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Infantile Liver Failure Syndrome 3
Hyperammonemia OMIM:618641

The table below shows human diseases predicted to be associated to Rint1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tumor Predisposition Syndrome 1
Malignant mesothelioma, Uveal melanoma, Renal cell carcinoma, Meningioma, Lung adenocarcinoma, Cu... OMIM:614327
Epidermodysplasia Verruciformis, Susceptibility To, 2
Squamous cell carcinoma of the skin, Verruca plana OMIM:618231
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Abnormal fallopian tube morphology, Primary peritonea... ORPHA:145
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
Serrated Polyposis Syndrome
Ovarian neoplasm, Pancreatic adenocarcinoma, Germ cell neoplasia, Colorectal polyposis, Breast ca... ORPHA:157798
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Brain neoplas... ORPHA:79140
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma, Sparse hair, Aplasia/Hypoplasia ... ORPHA:50944
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, Squamous cell carcinoma of the skin OMIM:618309
Thyroid Cancer, Nonmedullary, 4
Basal cell carcinoma, Ovarian neoplasm, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Colorectal Cancer
Neoplasm of the stomach, Renal cell carcinoma, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Huriez Syndrome
Nail dystrophy, Squamous cell carcinoma of the skin OMIM:181600
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin, Sex reversal ORPHA:85112
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Subependymoma
Spinal cord tumor, Ovarian neoplasm, Ependymoma, Neoplasm of the lung, Neoplasm of the breast, Su... ORPHA:251639
Ependymoma
Spinal cord tumor, Ovarian neoplasm, Ependymoma, Neoplasm of the lung, Neoplasm of the breast, Su... ORPHA:251636
Familial Multinodular Goiter
Basal cell carcinoma, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Colorectal p... ORPHA:276399
Maffucci Syndrome
Neoplasm of the parathyroid gland, Hemangiomatosis, Ovarian neoplasm, Neoplasm of the adrenal cor... ORPHA:163634
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Cutaneous leiomyoma, Barrett esophagus, Papillary renal cell carcinoma type ... ORPHA:523
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... OMIM:606719
Disabling Pansclerotic Morphea Of Childhood
Joint contracture, Squamous cell carcinoma of the skin OMIM:620443
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Nail dystrophy, Emphysema, Squamous cell carcinoma of the skin, Portal... OMIM:620365
Muir-Torre Syndrome
Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be... OMIM:158320
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Ovarian thecoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Goite... OMIM:180295
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Cutaneous leiomyoma, Renal cell carcinoma, Uterine leiomyosarcoma, Mult... OMIM:150800
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Epidermodysplasia Verruciformis, Susceptibility To, 3
Verrucae, Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the pancreas, Ovarian neoplasm, Endomet... OMIM:614350
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly,... ORPHA:83469
Diarrhea 13
Hypoalbuminemia, Recurrent hypoglycemia OMIM:620357
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Hypopigmentation of hair, Neoplasm of the breast, Neoplasm of the respiratory s... ORPHA:2221
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Tumor Predisposition Syndrome 2
Ductal carcinoma in situ, Acute myeloid leukemia, Uveal melanoma, Juvenile type ovarian granulosa... OMIM:619975
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Hypopigmentation of hair, Squamous cell carcinoma of the skin, Melanoma, Al... ORPHA:79434
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Abnormality of the ovary... ORPHA:206484
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Xeroderma Pigmentosum, Complementation Group C
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Actinic keratosis OMIM:278720
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,... ORPHA:454840
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Tumor Predisposition Syndrome 4
Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma OMIM:609265
Cheilitis Glandularis
Abnormal salivary gland morphology, Squamous cell carcinoma, Neoplasm ORPHA:1221
Bazex Syndrome
Liposarcoma, Nail dystrophy, Yellow nails, Lung adenocarcinoma, Neoplasm ORPHA:166113
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Albinism, Squamous cell carcinoma of the skin, Hypopigmentation of hair ORPHA:79431
Xeroderma Pigmentosum, Complementation Group B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Hypogonadism, Neoplasm, Cutaneous mela... OMIM:610651
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Premature Ovarian Failure 8
Streak ovary, Ovarian neoplasm, Elevated circulating luteinizing hormone level, Elevated circulat... OMIM:615723
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Neoplasm of the thyroid gland, Ovarian neoplasm, Neoplasm of the breast, Visceral angiomatosis, H... ORPHA:137608
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Familial Adenomatous Polyposis 3
Basal cell carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Bladder neopl... OMIM:616415
Dyskeratosis Congenita, Digenic
Basal cell carcinoma, Nail dystrophy, Squamous cell carcinoma of the skin, Melanoma, Decreased te... OMIM:620040
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Werner Syndrome
Premature graying of hair, White forelock, Hypogonadism, Neoplasm, Acral lentiginous melanoma, Pi... ORPHA:902
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Xeroderma Pigmentosum, Complementation Group A
Squamous cell carcinoma of the skin, Melanoma OMIM:278700
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
46,Xy Sex Reversal 6
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Hirsutism, Chordee, Sparse axillary hair, ... OMIM:613762
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Ovarian Fibrothecoma
Fibrosarcoma, Ovarian fibroma, Hirsutism, Pleural effusion, Abnormality of the ovary, Abnormal en... ORPHA:314478
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Insulin resistance, Diabetes mellitus, Hypercholesterolemia OMIM:612526
Full Schwannomatosis
Spinal cord tumor, Peripheral schwannoma, Lipoma, Lumbosacral hemangioma, Meningioma, Schwannoma,... ORPHA:93921
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Malignant mesothelioma, Atelectas... ORPHA:2302
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Cirrhosis, Nail dystrophy, Squamous cell carcinoma of the skin, Hepati... OMIM:127550
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Oculocutaneous Albinism Type 2
Basal cell carcinoma, Hypopigmentation of hair, Squamous cell carcinoma of the skin, White hair, ... ORPHA:79432
Cowden Syndrome 7
Trichilemmoma, Ductal carcinoma in situ, Intestinal polyposis, Papillary thyroid carcinoma, Heman... OMIM:616858
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:220295
Ovarian Fibroma
Basal cell carcinoma, Odontogenic keratocysts of the jaw, Ovarian fibroma, Pleural effusion, Abno... ORPHA:314473
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Lhermitte-Duclos Disease
Neoplasm of the thyroid gland, Trichilemmoma, Ovarian neoplasm, Fibroadenoma of the breast, Macro... ORPHA:65285
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Neoplasm of the skin, Ovarian dermo... ORPHA:480536
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Long eyelashes, Low anterior hairline, Sparse hair, Breast carcinoma, Ovarian c... OMIM:617883
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Basal cell carcinoma, Emphysema, Absent eyelashes, Squamous cell carci... ORPHA:363618
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Lynch Syndrome
Neoplasm of the stomach, Neoplasm of the pancreas, Intestinal polyposis, Neoplasm of the skin, Ma... ORPHA:144
Attenuated Familial Adenomatous Polyposis
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... ORPHA:220460
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:620010
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Brain neoplasm, Aden... ORPHA:447877
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Peripheral Primitive Neuroectodermal Tumor
Spinal cord tumor, Neoplasm of the pancreas, Ovarian neoplasm, Jaundice, Torticollis, Brain neopl... ORPHA:370348
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Frasier Syndrome
Ovarian gonadoblastoma, Gonadal dysgenesis, Male pseudohermaphroditism OMIM:136680
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Pilomatrixoma
Pilomatrixoma, Neoplasm of head and neck ORPHA:91414
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Melanoma ORPHA:90342
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Cowden Syndrome 1
Carcinoma, Hamartomatous polyposis, Varicocele, Transitional cell carcinoma of the bladder, Menin... OMIM:158350
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Nail dystrophy, Squamous cell carcinoma, Poroma, Apocrine hidrocystoma, Spa... OMIM:224750
Combined Immunodeficiency Due To Dock8 Deficiency
Squamous cell carcinoma of the vulva, Squamous cell carcinoma, Verrucae, Recurrent sinusitis, Pne... ORPHA:217390
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ... ORPHA:247806
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia ORPHA:163693
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Endometrial carcinoma, Adenomatous co... OMIM:613244
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
T-cell lymphoma, Elevated circulating hepatic transaminase concentration, Acute myeloid leukemia,... ORPHA:158057
Solitary Fibrous Tumor
Genital neoplasm, Neoplasm of the nervous system, Neoplasm of the lung, Abnormal prostate morphol... ORPHA:2126
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Basal cell carcinoma, Nail dystrophy, Squamous cell carcinoma, Stomach cance... ORPHA:79501
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Gardner Syndrome
Neoplasm of the pancreas, Lipoma, Odontoma, Ampulla of Vater carcinoma, Desmoid tumors, Multiple ... ORPHA:79665
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Legius Syndrome
Ovarian neoplasm, Acute monocytic leukemia, Non-small cell lung carcinoma, Desmoid tumors, Nephro... ORPHA:137605
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Astrocytoma, Breast intraductal papilloma, Ovarian cyst, Thyroid adenoma,... OMIM:617100
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Hypopigmentation of hair, Squamous cell carcinoma of the skin, Long eyelash... ORPHA:79430
Adamantinoma
Hypercalcemia ORPHA:55881
Familial Pancreatic Carcinoma
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarcinoma, Mel... ORPHA:1333
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma, Scarring alopecia of scalp, Absent eyelashes, Sparse scalp hair, Sparse ... OMIM:602540
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Neoplasm of the lung, Ovarian teratoma, Melanoma, Neuroblastoma, Breas... ORPHA:1183
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Ovarian neoplasm ORPHA:231632
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma, Flexion contracture ORPHA:357154
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase con... ORPHA:26793
Familial Colorectal Cancer Type X
Neoplasm of the thyroid gland, Basal cell carcinoma, Neoplasm of the pancreas, Neoplasm of the re... ORPHA:440437
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Distal lower limb amyotrophy, Nail dystrophy, Squamous cell carcinoma of the skin, Alopecia ORPHA:79396
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Lipoma, Pilomatrixoma, Adenocarcinoma of the colon, Embryonal rhabdomyosarcoma, Multinodular goit... OMIM:620189
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Carney Complex
Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hor... ORPHA:1359
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Xeroderma Pigmentosum, Complementation Group F
Keratoacanthoma, Basal cell carcinoma, Squamous cell carcinoma, Neoplasm of the skin, Seborrheic ... OMIM:278760
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,... OMIM:620211
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Hereditary Mixed Polyposis Syndrome
Thyroid carcinoma, Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, ... ORPHA:157794
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Adrenocortical Carcinoma
Adrenocortical carcinoma, Lung adenocarcinoma, Hypertrichosis, Adrenocorticotropic hormone defici... ORPHA:1501
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Nail dystrophy, Yellow nails, Actinic keratosis, Oropharyngeal squamous cell carcinoma, Sparse la... OMIM:614564
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Abnormal circulating creatine kinase concentration, Elevated haptoglobin level, ... OMIM:620632
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Cutaneous leiomyoma, Renal cell carcinoma, Trichodiscom... OMIM:135150
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased circulating iron concentration, Hypoglycemia ORPHA:446
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Small cell lung carcinoma, Testicular neoplasm, Female reproductive sys... ORPHA:71505
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Gastrointestinal carcinoma, Precocious puberty with Sertoli cell tumor,... OMIM:175200
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Hypercalcemia, Recurrent hypoglycemia ORPHA:94086
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Nail dystrophy, Squamous cell carcinoma OMIM:615225
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Adrenoco... ORPHA:100079
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Recurrent Respiratory Papillomatosis
Atelectasis, Squamous cell carcinoma, Abnormal lung morphology, Recurrent pneumonia, Recurrent up... ORPHA:60032
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Increased circulating ferritin concentration, Hyperhomocystinemia OMIM:601775
46,Xy Partial Gonadal Dysgenesis
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... ORPHA:251510
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration OMIM:616278
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Abnormality of the female genitalia, Fibroma, Diffuse leiomyomatosis, Aspira... ORPHA:1018
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... ORPHA:766
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper... OMIM:615160
Basal Cell Nevus Syndrome 1
Basal cell carcinoma, Cardiac rhabdomyoma, Odontogenic keratocysts of the jaw, Hamartomatous stom... OMIM:109400
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm of the skin, Sarcoma, Generalized hirsutism, Neoplasm, Cutaneous melanoma ORPHA:626
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Decreased circulating cortisol level, Hypoglycemic seizures OMIM:609734
Xeroderma Pigmentosum, Variant Type
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma OMIM:278750
Pilomatrixoma
Pilomatrixoma OMIM:132600
Denys-Drash Syndrome
Congenital diaphragmatic hernia, Ambiguous genitalia, male, Gonadal dysgenesis, Posterolateral di... OMIM:194080
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Turcot Syndrome With Polyposis
Intestinal polyposis, Cerebellar medulloblastoma, Pituitary adenoma, Desmoid tumors, Neoplasm of ... ORPHA:99818
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia of scalp, Nail dystrophy, Squamous cell carcinoma, Multinodular goiter, Alopecia OMIM:618373
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Dengue Fever
Hypoproteinemia ORPHA:99828
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic iron concentration, Increased circulating ferritin concentration, Type II diabet... OMIM:616860
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Paraneoplastic Pemphigus
B-cell lymphoma, Sarcoma, Thymoma ORPHA:63455
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ... OMIM:618858
Glioma Susceptibility 3
Acute myeloid leukemia, Medulloblastoma, Astrocytoma, B Acute Lymphoblastic Leukemia, Glioblastom... OMIM:613029
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... OMIM:616050
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia ORPHA:6
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Mpi-Cdg
Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperglutaminemia, Hyperprolinemia OMIM:616299
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... OMIM:242150
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Hypoglycemia, Conjugated hy... OMIM:617049
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia OMIM:617575
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Ring Chromosome 12 Syndrome
Breast hypoplasia, Glandular hypospadias, Hirsutism, Dystrophic toenail, Cryptorchidism, Hemangio... ORPHA:1439
Crouzon Syndrome
Dysgerminoma OMIM:123500
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypoproteinemia ORPHA:2315
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hypoglycemia OMIM:617093
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypoglycemi... OMIM:617156
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Basal Cell Nevus Syndrome 2
Basal cell carcinoma, Medulloblastoma, Meningioma, Neurofibroma, Angiofibromas OMIM:620343
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:613986
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fastin... ORPHA:2298
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Cowden Syndrome
Lipoma, Neoplasm of the skin, Neoplasm, Neoplasm of the central nervous system, Adenoma sebaceum,... ORPHA:201
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Steatorrhea, Hyperinsulinemic hypoglycemia OMIM:602579
Timothy Syndrome
Hypocalcemia, Hypoglycemia OMIM:601005
Eosinophilic Gastroenteritis
Hypoalbuminemia, Steatorrhea, Elevated circulating C-reactive protein concentration ORPHA:2070
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, ... OMIM:610582
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Hypermethionine... OMIM:614300
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Leukemia,... OMIM:276300
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Apert Syndrome
Ovarian neoplasm ORPHA:87
Papillon-Lefèvre Syndrome
Nail dystrophy, Liver abscess, Squamous cell carcinoma, Neoplasm of the skin, Melanoma, Sparse bo... ORPHA:678
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea OMIM:235555
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Thyroid carcinoma, Lipoma, Testicular neoplasm, Renal hamartoma, Primary hyperparathyroi... ORPHA:99880
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Familial Adenomatous Polyposis 1
Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc... OMIM:175100
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia, Neonatal insulin-dependent dia... ORPHA:1667
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Primary hyperparathyroidism, Carcinoid tumor, Pituitary ad... OMIM:610755
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Parathyroid Carcinoma
Fibroma, Parathyroid carcinoma, Thyroid carcinoma, Lipoma, Testicular neoplasm, Renal hamartoma, ... ORPHA:143
Generalized Pustular Psoriasis
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Bannayan-Riley-Ruvalcaba Syndrome
Thyroid carcinoma, Intestinal polyposis, Lipoma, Capillary hemangioma, Neoplasm of the adrenal co... ORPHA:109
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Fasting hypoglycemia, Hypouricemia, Hyperbi... OMIM:227810
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Omenn Syndrome
Hypoproteinemia OMIM:603554
Atypical Werner Syndrome
Premature graying of hair, Neoplasm of the skin, Calf muscle hypertrophy, White forelock, Hypogon... ORPHA:79474
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Fanconi Anemia, Complementation Group P
Cryptorchidism, Squamous cell carcinoma OMIM:613951
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dystrophy, Flexion contracture, Squamous cell carcinoma, Alopecia OMIM:226600
Dermatomyositis
Abnormal pulmonary interstitial morphology, Elevated circulating hepatic transaminase concentrati... ORPHA:221
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Nail dystrophy, Squamous cell carcinoma, Absent pubic hair, Knee flexion contracture,... OMIM:148210
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Cholera
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia ORPHA:173
Gorlin Syndrome
Basal cell carcinoma, Odontogenic keratocysts of the jaw, Ovarian fibroma, Medulloblastoma, Cardi... ORPHA:377
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Hypokalemia OMIM:175500
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Monosomy 9Q22.3
Basal cell carcinoma, Rhabdomyosarcoma, Odontogenic keratocysts of the jaw, Ovarian fibroma, Card... ORPHA:77301
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hypoglycemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concent... OMIM:251880
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Leishmaniasis
Hypoalbuminemia ORPHA:507
Propionic Acidemia
Hyperammonemia, Hypoglycemia ORPHA:35
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Endometrial carcinoma, Thick eyebrow, Melanoma, Breast carcinoma ORPHA:457212
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Chromomycosis
Abnormal lung morphology, Squamous cell carcinoma, Multiple cutaneous malignancies ORPHA:182
Steinert Myotonic Dystrophy
Elevated circulating hepatic transaminase concentration, Neoplasm of the skin, Facial diplegia, A... ORPHA:273
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Pulmonary pneumatocele, Sclerosing cholangitis, Squamous cell carcinoma, Recurrent sinusitis, Rec... OMIM:243700
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Steatorrhea, Abnormal serum bile acid concentration, Conjugated hyperbilirubi... ORPHA:79303
Hemochromatosis, Neonatal
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... OMIM:231100
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia OMIM:613280
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Hypoalbuminemia, Neonatal hypoglycemia, Elevated circulating creatine kinase concen... OMIM:619055
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Hypoglycemia OMIM:619075
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia ORPHA:664
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... OMIM:618838
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, External genital hypoplasia, Nail dystrophy, Ovotestis, Hypospadias, Carcin... OMIM:610644
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Fasting hypoglycemia, Hyperuricemia, Hyperalaninemia, Neonatal hyperbiliru... ORPHA:348
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Trichothiodystrophy 1, Photosensitive
Trichorrhexis nodosa, Basal cell carcinoma, Nail dystrophy, Squamous cell carcinoma, Brittle hair... OMIM:601675
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hypoglycemia, Hyperalaninemia OMIM:618329
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Melanoma, Ab... ORPHA:1916
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Glycogen Storage Disease Vii
Increased total bilirubin, Elevated circulating creatine kinase concentration, Hyperuricemia OMIM:232800
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Familial Adenomatous Polyposis
Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod... ORPHA:733
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level, Re... ORPHA:79644
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hyponatremia, Increased circulating ferritin concentration, Hypoproteinemia ORPHA:167
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoglycemia OMIM:607143